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    • 18. 发明申请
    • METHODS FOR PROCESSING NEXT-GENERATION SEQUENCING GENOMIC DATA
    • 用于处理下一代测序基因组数据的方法
    • WO2017220508A1
    • 2017-12-28
    • PCT/EP2017/064968
    • 2017-06-19
    • SOPHIA GENETICS S.A.
    • SONG, LinSTEIJGER, TamaraBEHR, JonasNOVAK, AdamHERNANDEZ, DavidXU, Zhenyu
    • G06F19/28G06F19/18G06F19/22
    • G16B20/20G16B20/00G16B30/00G16B30/10G16B50/00
    • A genomic data analyzer system detects a set of characteristics that uniquely determine the input next-generation-sequencing (NGS) sample processing and corresponding genomic context for optimizing a genomic analysis workflow in precision medicine applications. Depending on characteristics such as the DNA target enrichment amplicon-based or probe-based assay technology, the sample type or laboratory process characteristics, the NGS sequencing technology and the genomic context, the genomic data analyzer automatically selects and configures a data alignment module and a variant calling module to optimize the sensitivity and the specificity of the detection of genomic mutations of clinical relevance such as SNPs and INDELs in a diversity of pathologies. More characteristics of the sequencing technology, the target enrichment technology, the samples or the genomic context may be identified according to intermediary results of the data alignment module and the variant calling module, and the genomic data analyzer may further adapt accordingly the alignment module and the variant calling module to execute specific genomic data processing methods. The genomic data analyzer system can thus automatically serve a diversity of sourcing laboratories operating with different biological assays and sequencing technologies setups for different pathologies without requiring a dedicated manual configuration of the genomic analysis workflow at each laboratory for each possible personalized medicine genomic analysis request.
    • 基因组数据分析系统检测一组特征,这些特征唯一地确定输入下一代测序(NGS)样品处理和相应的基因组环境,以优化精密医学应用中的基因组分析工作流程。 根据基于DNA靶向富集扩增子或基于探针的测定技术,样品类型或实验室过程特征,NGS测序技术和基因组环境等特征,基因组数据分析仪会自动选择和配置数据对齐模块和 变体调用模块来优化检测临床相关性基因组突变的敏感性和特异性,如SNP和INDEL在多种病理学中的应用。 根据数据比对模块和变异调用模块的中间结果可以确定测序技术,目标富集技术,样品或​​基因组背景的更多特征,并且基因组数据分析器可以进一步适配对准模块和 变体调用模块执行特定的基因组数据处理方法。 因此,基因组数据分析仪系统可以自动地服务于多种采购实验室,其针对不同病理学的不同生物测定和测序技术设置操作,而不需要针对每个可能的个性化医学基因组分析请求在每个实验室处进行基因组分析工作流程的专门手动配置。 / p>
    • 19. 发明申请
    • BIOINFORMATICS SYSTEMS, APPARATUS, AND METHODS FOR PERFORMING SECONDARY AND/OR TERTIARY PROCESSING
    • 用于进行二次和/或三次加工的生物信息系统,装置和方法
    • WO2017214320A1
    • 2017-12-14
    • PCT/US2017/036424
    • 2017-06-07
    • EDICO GENOME, CORP.
    • VAN ROOYEN, PieterRUEHLE, MichaelMEHIO, RamiSTONE, GavinHAHM, MarkOJARD, EricPTASHEK, Amnon
    • G06F19/28
    • A system, method and apparatus for executing a bioinformatics analysis on genetic sequence data is provided. Particularly, a genomics analysis platform for executing a sequence analysis pipeline is provided. The genomics analysis platform includes one or more of a first integrated circuit, where each first integrated circuit forms a central processing unit(CPU) that is responsive to one or more software algorithms that are configured to instruct the CPU to perform a first set of genomic processing steps of the sequence analysis pipeline. Additionally, a second integrated circuit is also provided, where each second integrated circuit forming a field programmable gate array (FPGA), the FPGA being configured by firmware to arrange a set of hardwired digital logic circuits that are interconnected by a plurality of physical interconnects to perform a second set of genomic processing steps of the sequence analysis pipeline, the set of hardwired digital logic circuits of each FPGA being arranged as a set of processing engines to perform the second set of genomic processing steps. A shared memory is also provided.
    • 提供了用于对基因序列数据执行生物信息学分析的系统,方法和装置。 具体而言,提供了用于执行序列分析流水线的基因组分析平台。 基因组学分析平台包括第一集成电路中的一个或多个,其中每个第一集成电路形成响应于一个或多个软件算法的中央处理单元(CPU),该软件算法被配置为指示CPU执行第一组基因组 处理序列分析流水线的步骤。 此外,还提供了第二集成电路,其中每个第二集成电路形成现场可编程门阵列(FPGA),所述FPGA由固件配置为布置一组硬连线数字逻辑电路,所述一组硬连线数字逻辑电路通过多个物理互连互连到 执行序列分析流水线的第二组基因组处理步骤,每个FPGA的该组硬连线数字逻辑电路被布置为一组处理引擎以执行第二组基因组处理步骤。 还提供共享内存。
    • 20. 发明申请
    • DIET QUALITY PHOTO NAVIGATION
    • 饮食质量照片导航
    • WO2017142701A1
    • 2017-08-24
    • PCT/US2017/015720
    • 2017-01-31
    • KATZ, David L.
    • KATZ, David L.
    • G06F17/00G06F17/30G06F19/00G06F19/26G06F19/28
    • G09B19/0092G09B29/00
    • A method for translating levels of diet quality into photographic representations of dietary pattern. The method includes the steps of (a) using a diet quality measure to identify a plurality of dietary patterns that each represent a level of diet quality for a period of time; (b) assigning a dietary score to each of the plurality of dietary patterns; (c) converting the plurality of dietary patterns into representative dietary patterns; and (d) converting the representative dietary patterns into food photographs. The food photographs depict the photographic representation of the dietary patterns for the period of time. The photographic representations of dietary patterns can be used to establish an individual or household's dietary pattern and can be incorporated into programs to navigate a user from a current dietary pattern to a more optimal dietary pattern.
    • 一种将饮食质量水平转化为膳食模式摄影表现的方法。 该方法包括以下步骤:(a)使用饮食质量测量来识别多个饮食模式,每个饮食模式代表一段时间的饮食质量水平; (b)将饮食分数分配给多种饮食模式中的每一种; (c)将所述多种饮食模式转换为代表性饮食模式; 和(d)将代表性的饮食模式转换成食物照片。 食物照片描述了这段时间饮食模式的摄影表现。 饮食模式的摄影表现可以用来建立个人或家庭的饮食模式,并且可以结合到程序中以从当前的饮食模式导航到更优化的饮食模式。